Genetic etiology of primary premature ovarian insufficiency.

GENETIC ETIOLOGY OF PRIMARY PREMATURE OVARIAN INSUFFICIENCY.
Acta Clin Croat. 2016 12;55(4):629-35
Authors: Franić-Ivanišević M, Franić D, Ivović M, Tančić-Gajić M, Marina L, Barac M, Vujović S
Abstract
Primary premature ovarian insufficiency (PPOI) is characterized by hypergonadotropic
amenorrhea and hypoestrogenism in women under 40 years of age. PPOI incidence is 1:10,000
in women aged 18-25, 1:1000 in women aged 25-30 and 1:100 in women aged 35-40. In 10%-28% of
cases, PPOI causes primary and in 4%-18% secondary amenorrhea. The process is a consequence of
accelerated oocyte atresia, diminished number of germinated cells, and central nervous system aging.
Specific genes are responsible for the control of oocyte number undergoing the ovulation process and
the time to cessation of the reproductive function. A positive family history of PPOI is found in 15%
of women with PPOI, indicating the existing genetic etiology. Primary POI comprises genetic aberrations
linked to chromosome X (monosomy, trisomy, translocation, deletion) or to autosomal chromosome.
Secondary POI implies surgical removal of ovaries, chemotherapy and radiotherapy, and
infections. Diagnostic criteria include follicle stimulating hormone level >40 IU/L and estradiol level
<50 pmol/L.
PMID: 29117655 [PubMed - in process]

Source: Acta Clinica Croatica - November 10, 2017 Category: General Medicine Tags: Acta Clin Croat Source Type: research